Results 171 to 180 of about 4,920 (197)

Abnormal mRNA Splicing Effect of COL4A3 to COL4A5 Unclassified Variants

Kidney International Reports, 2023
Genetic diagnosis of Alport syndrome (AS), which results from pathogenic variants in COL4A3, COL4A4, or COL4A5 genes, is hindered by large numbers of unclassified variants detected using next-generation sequencing (NGS). We examined the impact on splicing of variants of uncertain significance in COL4A3 to COL4A5.Nine unrelated patients with clinical ...
Yanqin Zhang
exaly   +3 more sources

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COL4A3 expression correlates with pathogenesis, pathologic behaviors, and prognosis of gastric carcinomas

Human Pathology, 2013
COL4A3 protein belongs to type IV collagen family and is closely linked to kidney diseases and cancer. To clarify the roles of COL4A3 in gastric carcinogenesis and subsequent progression, its expression was examined by immunohistochemistry on tissue microarrays containing gastric carcinomas, adjacent intestinal metaplasia, pure intestinal metaplasia ...
Hua-Chuan Zheng, Xiao-Cui Nie, Ya-Nan Xing   +2 more
exaly   +3 more sources

Novel heterozygous COL4A3 mutation in a family with late-onset ESRD

Pediatric Nephrology, 2010
Thin basement membrane nephropathy (TBMN) and Alport syndrome (ATS) are genetically heterogeneous conditions characterized by structural abnormalities in the glomerular basement membrane (GBM). TBMN presents with hematuria, minimal proteinuria, and normal renal function.
Julia, Hoefele, Bärbel, Lange-Sperandio, Despina, Ruessmann, Judith, Glöckner-Pagel, Martin, Alberer, Marcus R, Benz, Mato, Nagel, Lutz T, Weber   +7 more
openaire   +2 more sources

Canine COL4A3 and COL4A4: sequencing, mapping and genomic organization.

DNA sequence : the journal of DNA sequencing and mapping, 2005
Canine alpha3 and alpha4 chains of collagen type IV genes (COL4A3 and COL4A4) are expressed in the renal glomerular basement membrane, where they provide a critical structural and functional matrix for other basement membrane components. These genes are candidates for hereditary nephritis (Alport syndrome) in several dog breeds (e.g.
Wiersma, A.C., Millon, L.V., Hestand, M.S., van Oost, B.A., Bannasch, D.L.   +4 more
openaire   +2 more sources

ADPKD and Collagen Genes (COL4A3, COL4A4, COL4A5)

Journal of the American Society of Nephrology, 2023
Carlotta Caprara, Valentina Corradi, Matteo Rigato, Barbara Mancini, Nenzi Marzano, Omar Perbellini, Fiorella Gastaldon, Claudio Ronco, Monica Zanella   +8 more
openaire   +1 more source

COL4A3/COL4A4 as a Cause of Multicystic Kidney Disease

Journal of the American Society of Nephrology, 2020
Teresa Bada Bosch, Sara Afonso Ramos, Angel M. Sevillano, Eduardo Gutierrez-martinez, Teresa Cavero escribano, Elena Gutierrez-solis, Florencio Garcĭa, Enrique Morales, Paula J. Caro espada, Manuel Praga   +9 more
openaire   +1 more source

Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3–COL4A5) and Their Association With Other Kidney Conditions: A Review

American Journal of Kidney Diseases, 2021
Judy Savige
exaly  

Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families

Kidney Medicine, 2023
Jeroen K J Deegens, Jeroen Schoots, Eric Steenbergen   +2 more
exaly